Hoffmanstevens1250

214 C > T; p.(Arg72*) and one frameshift variant (c.1286_1287delGT; p.(Ser429Thrfs*56)). While the p.(Ser429Thrfs*56) variant segregated with disease in a family with three affected females, the three remaining variants occurred de novo. Subjects shared a mild phenotype characterized by global developmental delay, behavioral difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder. Computational analysis of the missense variants suggest that the altered amino acid residues are likely to be located in protein regions important for function. This paper demonstrates that PRICKLE2 is involved in human neuronal development and that pathogenic variants in PRICKLE2 cause neurodevelopmental delay, behavioral difficulties and epilepsy in humans.Lipidomics research could provide insights of pathobiological mechanisms in Alzheimer's disease. This study explores a battery of plasma lipids that can differentiate Alzheimer's disease (AD) patients from healthy controls and determines whether lipid profiles correlate with genetic risk for AD. AD plasma samples were collected from the Sydney Memory and Ageing Study (MAS) Sydney, Australia (aged range 75-97 years; 51.2% male). Untargeted lipidomics analysis was performed by liquid chromatography coupled-mass spectrometry (LC-MS/MS). We found that several lipid species from nine lipid classes, particularly sphingomyelins (SMs), cholesterol esters (ChEs), phosphatidylcholines (PCs), phosphatidylethanolamines (PIs), phosphatidylinositols (PIs), and triglycerides (TGs) are dysregulated in AD patients and may help discriminate them from healthy controls. However, when the lipid species were grouped together into lipid subgroups, only the DG group was significantly higher in AD. ChEs, SMs, and TGs resulted in goodctively. Additionally, 43.4% of lipids in the SM class were differentially associated with CLU. More than 30% of lipids in ChE, PE, and TG classes had differential associations with separate genes (ChE-PICALM, SLC24A4, and SORL1; PE-CLU and CR1; TG-BINI) between AD and control group. These data may provide renewed insights into the pathobiology of AD and the feasibility of identifying individuals with greater AD risk.

Hospital emergency services have specific care characteristics that make them more vulnerable to the risk of legal claims. The fact of suffering a legal claim for professional practice is a very traumatic event. The objective of this study was to find out the opinion of the professionals of the hospital emergency services in Spain on the importance of practices associated with defensive medicine.

Survey of 1,449 professionals from public and private hospital emergency services throughout the national territory was made, in the period between March 13

and April

, 2017. A univariate analysis was performed to identify variables in relation to the practice of defensive medicine, and the determination of the groups of greater association (chi2 test) to evaluate these variables.

96.1% expressed the need to strengthen their medical-legal training. 91.3% of the cases felt more legal pressure and 88.7% declared that they act conditioned by the threat of judicial claim. Regarding patient treatments, 89.8% stated that they perform diagnostic tests that may not be necessary and 63% of professionals stated that they extend the stay of patients in the emergency department. As for the healthcare organization, 88% declared that they do not feel protected by the structure and 79.1% do not felt support from the center's management.

Practices associated with defensive medicine are frequent in our country, with a high proportion of criminal proceedings, and the two main causes are dispensable diagnostic tests and unnecessary prolongation of length of stay.

Practices associated with defensive medicine are frequent in our country, with a high proportion of criminal proceedings, and the two main causes are dispensable diagnostic tests and unnecessary prolongation of length of stay.BACKGROUND Malignant tumors, such as lung and breast cancers, can metastasize to the heart. However, cardiac metastasis rarely occurs in colorectal cancer. Cardiac metastasis cases are typically asymptomatic and rarely cause cardiac tamponade. Heart failure due to systemic metastasis is a terminal symptom; therefore, cardiac metastasis is rarely diagnosed when a patient is alive. We report a case of stage II ascending colon cancer with cardiac tamponade due to pericardial metastasis. CASE REPORT The patient was a 63-year-old woman who underwent laparoscopic ileocecal resection for ascending colon cancer. The final pathological diagnosis was stage IIB cancer. At the time of surgery, computed tomography scans revealed no metastases to the regional lymph nodes, liver, lungs, and other organs. The patient was then referred for dyspnea 5 months after the surgery. Computed tomography revealed large quantities of pericardial effusion, and the patient was diagnosed with cardiac tamponade. The symptoms were alleviated after pericardiocentesis. Cytological examination of the pericardial fluid confirmed the diagnosis of adenocarcinoma, and by extension, cardiac metastasis of the ascending colon cancer. Anticancer agents were recommended, but the patient opted for palliative treatment. CONCLUSIONS We report a rare case of ascending colon cancer with pericardial metastasis. The advancements in chemotherapy have made the prognosis of colorectal cancer more favorable. The prevalence of pericardial metastasis is expected to increase as well. As such, it is necessary to discuss similar case encounters and establish appropriate treatment.BACKGROUND Periodontal ligament stem cells (PDLSCs) are promising seed cells for bone tissue engineering and periodontal regeneration applications. However, the mechanism underlying the osteogenic differentiation process remains largely unknown. Previous reports showed that prolactin-induced protein (PIP) was upregulated after PDLSCs osteogenic induction. However, few studies have reported on the function of PIP in osteogenic differentiation. The purpose of the present study was to investigate the effect of PIP on osteogenic differentiation of PDLSCs. MATERIAL AND METHODS The expression pattern of PIP during PDLSCs osteogenic differentiation was detected and the effect of each component in the osteogenic induction medium on PIP was also tested by qRT-PCR. Then, the PIP knockdown cells were established using lentivirus. The knockdown efficiency was measured and the proliferation, apoptosis, and osteogenic differentiation ability were examined to determine the functional role of PIP on PDLSCs. RESULTS QRT-PCR showed that PIP was sustainedly upregulated during the osteogenic induction process and the phenomenon was mainly caused by the stimulation of dexamethasone in the induction medium. CCK-8 and flow cytometer showed that knocking down PIP had no influence on proliferation and apoptosis of PDLSCs. ALP staining and activity, Alizarin Red staining, and western blot analysis demonstrated PIP knockdown enhanced the osteogenic differentiation and mineralization of PDLSCs. CONCLUSIONS PIP was upregulated after osteogenic induction; however, PIP knockdown promoted PDLSCs osteogenic differentiation. PIP might be a by-product of osteogenic induction, and downregulating of PIP might be a new target in bone tissue engineering applications.BACKGROUND Jejunoileal neuroendocrine tumors (JI-NETs) are rare tumors that can be associated with mesenteric fibrosis. CCT128930 in vivo This case report is of an incidental finding of a JI-NET in a patient who was previously misdiagnosed with sclerosing mesenteritis. CASE REPORT A 42-year-old man was admitted to our institution with diffuse abdominal pain and clinical and radiographic signs of bowel obstruction. He had a previous diagnosis of sclerosing mesenteritis, which had been histologically diagnosed after an exploratory laparoscopy performed in 2009 for recurrent acute abdominal pain. He was also annually monitored through computed tomography scans for an incidentally discovered, gradually enlarging mesenteric mass for which a "wait and watch" management approach was adopted. After a period of fasting and observation, the patient underwent an urgent exploratory laparotomy because of his worsening condition. Intraoperatively, an ileocecal resection was performed, along with excision of the known mesenteric mass. The pathology report revealed an ileal NET with nodal metastases within the mesentery and mesenteric tumor deposits (pT3N1). CONCLUSIONS JI-NETs are rare entities, which are usually encountered as incidental findings or in patients with unspecific abdominal pain. Our case represents a probable delayed diagnosis of JI-NET in the context of sclerosing mesenteritis; therefore, a possible association between these 2 conditions should be investigated.BACKGROUND Nursing education is an important part of the "9+3" vocational education program led by Sichuan Province. In the internship stage, nursing students of Tibetan ethnicity may have problems of intercultural adaptation in the process of getting along with patients, which may affect the effective nursing outcome. The purpose of this study was to clarify the current situation of transcultural adaptation of Tibetan trainee nurses and to provide more theoretical support and guidance. MATERIAL AND METHODS We collected 237 valid survey questionnaires, based on Ward's acculturation process model, from a total of 363 Tibetan trainee nurses in the "9+3" free vocational education program in Chengdu, Luzhou, and Nanchong of Sichuan Province. The SPSSAU project (2020), an online application software retrieved from https//www.spssau.com, was used for data coding and archiving. RESULTS The results of questionnaire and data analysis showed that the overall level of transcultural adaptation of Tibetan trainee nurses was that the number of people with poor adaptation was slightly higher than those with good adaptation, and most Tibetan trainee nurses were in the middle level. Meanwhile, sociocultural adaptation was better than psychological adaptation. There were no statistically significant differences among the 4 grouping variables gender, student home region, the city where the internship hospital was located, and whether they were from a single-child family or not. CONCLUSIONS The results revealed that there was still transcultural maladjustment among Tibetan nurses in the internship stage, and the psychological maladjustment was more obvious than the sociocultural maladjustment. We provide countermeasures and suggestions to solve the problems of transcultural adaptation reflected in the research.During 2020, increasing numbers of case reports, case series, and small observational studies reported long-term complications of coronavirus disease 2019 (COVID-19) in patients who had recovered from acute infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Long COVID has a prevalence of between 10-30% in patients with a recent history of SARS-CoV-2 infection. Pulmonary, hematologic, cardiovascular, neuropsychiatric, renal, endocrine, gastrointestinal and hepatobiliary, and dermatologic involvement, and chronic multisystem inflammatory syndrome in children (MIS-C) highlights the requirement for a multidisciplinary approach to the management of patients with long COVID. This Editorial aims to present the current status of long COVID, or post-COVID syndrome, and its global impact on health and the provision of health care.